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Gene | MLH1 |
Variant | R725H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MLH1 R725H lies within the C-terminal dimerization domain of the Mlh1 protein (PMID: 22753075). R725H results in similar viability and caspase-3/7 levels, but varied levels of ATM/ATR phosphorylation and gH2AX foci induction compared to wild-type Mlh1 (PMID: 28494185), and therefore, its effect on Mlh1 protein function is unknown (PubMed, Dec 2021). |
Associated Drug Resistance |
Transcript | NM_000249.3 |
gDNA | chr3:g.37050556G>A |
cDNA | c.2174G>A |
Protein | p.R725H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000249 | chr3:g.37050556G>A | c.2174G>A | p.R725H | RefSeq | GRCh38/hg38 |
NM_000249.3 | chr3:g.37050556G>A | c.2174G>A | p.R725H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MLH1 R725H | unknown |